Reactome | mucopolysaccharidosis

Schema > Disease > Entries

mucopolysaccharidosis Show undefined attributes

created	[InstanceEdit:2226061] Jassal, B, 2012-05-04
databaseName	DOID
dbId	2226052
definition	A lysosomal storage disease that involves he accumulation of glycosaminoglycans in the tissues and their excretion in the urine.
displayName	mucopolysaccharidosis
identifier	12798
name	mucopolysaccharidosis
referenceDatabase	[ReferenceDatabase:1247631] DOID
schemaClass	Disease
synonym	Mucopolysaccharidosis Mucopolysaccharidoses Mucopolysaccharidosis (disorder) Mucopolysaccharidosis Mucopolysaccharidosis NOS (disorder) mucopolysaccharidosis Mucopolysaccharidosis [Ambiguous]
url	https://www.ebi.ac.uk/ols4/ontologies/doid/terms?obo_id=DOID:12798

Referrals

(disease)

[Pathway:R-HSA-2206281] Mucopolysaccharidoses
[Pathway:R-HSA-9953097] MPS IX - Natowicz syndrome (CS/DS degradation)
[FailedReaction:R-HSA-2318585] Defective HYAL1 does not hydrolyse Chondroitin chains
[DefinedSet:R-HSA-2245239] HGSNAT mutants [lysosomal membrane]
[EntityWithAccessionedSequence:R-HSA-2245245] HGSNAT W403C;A615T [lysosomal membrane]
[EntityWithAccessionedSequence:R-HSA-2245230] HGSNAT S518F [lysosomal membrane]
[EntityWithAccessionedSequence:R-HSA-2245233] HGSNAT R344C [lysosomal membrane]
[EntityWithAccessionedSequence:R-HSA-2245250] HGSNAT R384* [lysosomal membrane]
[Pathway:R-HSA-2206280] MPS IX - Natowicz syndrome (Hyaluronan metabolism)
[FailedReaction:R-HSA-9036077] Defective HYAL1 does not hydrolyse (HA)50
[DefinedSet:R-HSA-9832509] HYAL1 mutants [lysosomal lumen]
[EntityWithAccessionedSequence:R-HSA-2318589] HYAL1 E268K [lysosomal lumen]
[EntityWithAccessionedSequence:R-HSA-2318714] HYAL1 V251Ffs*20 [lysosomal lumen]
[Pathway:R-HSA-2206308] MPS IV - Morquio syndrome B (Keratin metabolism)
[FailedReaction:R-HSA-2265534] Defective GLB1 does not hydrolyse a glycosaminoglycan
[Pathway:R-HSA-9953111] MPS IV - Morquio syndrome B (CS/DS degradation)
[FailedReaction:R-HSA-9036061] Defective GLB1 does not hydrolyse linker chain(2)
[DefinedSet:R-HSA-2262737] GLB1 mutants [lysosomal lumen]
[EntityWithAccessionedSequence:R-HSA-2262732] GLB1 W509C [lysosomal lumen]
[EntityWithAccessionedSequence:R-HSA-2262735] GLB1 Y83C [lysosomal lumen]
[EntityWithAccessionedSequence:R-HSA-2262739] GLB1 R482C [lysosomal lumen]
[EntityWithAccessionedSequence:R-HSA-2262738] GLB1 W273L [lysosomal lumen]
[DefinedSet:R-HSA-2245240] GNS mutants [lysosomal lumen]
[EntityWithAccessionedSequence:R-HSA-2245231] GNS Q390* [lysosomal lumen]
[EntityWithAccessionedSequence:R-HSA-2245247] GNS Q272* [lysosomal lumen]
[EntityWithAccessionedSequence:R-HSA-2245243] GNS S94I [lysosomal lumen]
[EntityWithAccessionedSequence:R-HSA-2245238] GNS R355* [lysosomal lumen]